S Einarsdottir, G Orrsjö, L von Bahr, A Staffas, L Fogelstrand
{"title":"急性髓性白血病伴NPM1突变,表现为快速进展的嗜酸性粒细胞增多症。","authors":"S Einarsdottir, G Orrsjö, L von Bahr, A Staffas, L Fogelstrand","doi":"10.1155/crh/5125740","DOIUrl":null,"url":null,"abstract":"<p><p>Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days, and 70% eosinophils on differential count. The patient initially presented with diffuse symptoms but developed eosinophilic myocarditis during hospitalization. Targeted next-generation sequencing identified a mutation in <i>NPM1</i> and according to the WHO 5<sup>th</sup> edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with <i>NPM1</i> mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion <i>ETV6</i>::<i>ACSL6</i>. This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD-negativity for <i>NPM1</i>, the patient relapsed shortly after stem cell transplantation and died.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"5125740"},"PeriodicalIF":0.7000,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197511/pdf/","citationCount":"0","resultStr":"{\"title\":\"Acute Myeloid Leukemia With <i>NPM1</i> Mutation Presenting With Rapidly Progressing Hypereosinophilia.\",\"authors\":\"S Einarsdottir, G Orrsjö, L von Bahr, A Staffas, L Fogelstrand\",\"doi\":\"10.1155/crh/5125740\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days, and 70% eosinophils on differential count. The patient initially presented with diffuse symptoms but developed eosinophilic myocarditis during hospitalization. Targeted next-generation sequencing identified a mutation in <i>NPM1</i> and according to the WHO 5<sup>th</sup> edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with <i>NPM1</i> mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion <i>ETV6</i>::<i>ACSL6</i>. This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD-negativity for <i>NPM1</i>, the patient relapsed shortly after stem cell transplantation and died.</p>\",\"PeriodicalId\":46307,\"journal\":{\"name\":\"Case Reports in Hematology\",\"volume\":\"2025 \",\"pages\":\"5125740\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-06-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197511/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/crh/5125740\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/crh/5125740","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Acute Myeloid Leukemia With NPM1 Mutation Presenting With Rapidly Progressing Hypereosinophilia.
Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days, and 70% eosinophils on differential count. The patient initially presented with diffuse symptoms but developed eosinophilic myocarditis during hospitalization. Targeted next-generation sequencing identified a mutation in NPM1 and according to the WHO 5th edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with NPM1 mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion ETV6::ACSL6. This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD-negativity for NPM1, the patient relapsed shortly after stem cell transplantation and died.